Clinical and genetic characteristics of xeroderma pigmentosum in Nepal

Abstract

Although not previously reported, XP seems frequent in Nepal. Patients often presented with a very severe phenotype after a long history of excessive sun exposure without knowledge of the disease. Fifteen of 17 had the same p.R415X XPC mutation, which seems very specific of XP in Nepal, suggesting a founder effect. NGS analyses frequently revealed associated genetic alterations which could play a modifier role in the clinical expression of the disease.

Skin tumors in xeroderma pigmentosum: Evaluation of a large series and a literature review

“…KA development was stated in only a few number of XP case series (Table 2). 1‐3,7,14 The spontaneous healing propensity of these tumors, which was observed in all of our cases, might be the reason for KA to be rare in other reported XP series 4‐6,8‐13,15‐18 …”

“…These rates are compatible with the further data in the literature describing the higher rate of nonmelanoma skin cancer development compared to melanoma development (Table 2). 1‐17 In our study, cutaneous melanoma (18 lesions in six patients) represented the second most common malignant skin tumor. The frequency of in situ lesions (83.3%) emphasizes the importance of early diagnosis due to close follow‐up of XP patients.…”

“… 1‐18 BCC was nearly six times more common than SCC (n = 13 in six patients) in our cohort. Although BCC was found more common in some previous reports 4‐7,9,16 similar to our series, in a review article comprising 830 published XP cases from 1874 to 1982 19 and in several other studies, the most common malignant skin tumor was reported to be SCC 1‐3,10‐14 . Basosquamous carcinoma, a rare skin carcinoma, was occasionally reported in the setting of XP 20,21 .…”

“…In most of the XP series benign skin tumors were neither investigated nor observed 3,7‐18 and only a few studies described particular benign tumors in XP patients 1,2,4‐6 (Table 2). Seborrheic keratosis was only noted in three adult XP patients in our series.…”

“…Xeroderma pigmentosum (XP) is a rare genodermatosis presenting with mucocutaneous, ocular, and neurological abnormalities and a high incidence of cutaneous malignancies 1‐3 . Although there are a few number of reports describing benign skin tumors in the setting of XP, 1,2,4‐6 in most series no association has been emphasized 3,7‐18 . The aim of this study is to evaluate 24 XP patients with respect to the development of benign skin tumors, precancerous lesions, and malignant skin tumors with their distinct clinical and histopathological features during a long follow‐up period.…”